The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the clavicle||90%|
|Abnormality of the teeth||90%|
|Aplasia/Hypoplasia of the skin||90%|
|Limitation of joint mobility||90%|
|Prematurely aged appearance||90%|
|Short distal phalanx of finger||90%|
|Abnormality of lipid metabolism||50%|
|Abnormality of the eyebrow||50%|
|Abnormality of skin pigmentation||7.5%|
|Abnormality of the palate||7.5%|
|Lack of skin elasticity||7.5%|
|Acroosteolysis of distal phalanges (feet)||-|
|Autosomal recessive inheritance||-|
|Decreased subcutaneous fat||-|
|Delayed cranial suture closure||-|
|Hypoplasia of teeth||-|
|Increased adipose tissue around the neck||-|
|Increased facial adipose tissue||-|
|Insulin-resistant diabetes mellitus||-|
|Loss of subcutaneous adipose tissue in limbs||-|
|Narrow nasal ridge||-|
|Osteolytic defects of the distal phalanges of the hand||-|
|Postnatal growth retardation||-|
|Premature loss of teeth||-|
|Progressive clavicular acroosteolysis||-|
|Sparse scalp hair||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Gordon Research Conference – Intermediate Filaments
Saturday, June 14, 2014 -
Friday, June 20, 2014
Location: Mount Snow Resort, West Dover, VT
The 2014 GRC-Intermediate Filaments will include short talks, discussions, and poster presentations from the leaders in the field. It will provides several functional perspectives with an emphasis on the paradigm shifting notion that IFs are not only structural proteins but also play essential roles as signaling organizers and buffers of cellular stress, which contribute to number of disease pathologies. There will be robust discussions on how mutations in the IF genes encoding these IF proteins are responsible for rare diseases, such as epidermolysis bullosa simplex (EBS), but extending into the entire list of rare diseases outlined above. Discussions will be focused on how cell biology and physiology efforts are providing unique therapeutic approaches to the highly complex disorders, such as those caused by lamin A/C gene mutations, which are involved in Progeria.
Contact: Carl C. Baker, M.D., Ph.D.,(301) 594-5017,email@example.com
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
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